{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389674138",
  "communityStandardTitle": [
    "NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=977103[alleleid]",
        "alleleId": 977103,
        "preferredName": "NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/989017",
        "RCV": [
          "RCV001391394"
        ],
        "variationId": 989017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.51089912C>G?assembly=hg19",
        "id": "chr14:g.51089912C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50623194C>G?assembly=hg38",
        "id": "chr14:g.50623194C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555365597",
        "rs": 1555365597
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 50623194,
          "referenceAllele": "C",
          "start": 50623193
        }
      ],
      "hgvs": [
        "NC_000014.9:g.50623194C>G",
        "CM000676.2:g.50623194C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 51089912,
          "referenceAllele": "C",
          "start": 51089911
        }
      ],
      "hgvs": [
        "NC_000014.8:g.51089912C>G",
        "CM000676.1:g.51089912C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 50159662,
          "referenceAllele": "C",
          "start": 50159661
        }
      ],
      "hgvs": [
        "NC_000014.7:g.50159662C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95113,
          "referenceAllele": "C",
          "start": 95112
        }
      ],
      "hgvs": [
        "NG_009028.1:g.95113C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001388"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "C",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000553509.2:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450989.2:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000450989.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000556478.3:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501428.2:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000501428.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000682037.1:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508289.1:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000508289.1:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2403,
          "referenceAllele": "C",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000682219.1:n.2403C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2676,
          "referenceAllele": "C",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000682487.1:n.2676C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000683037.1:n.986C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000683330.1:n.1399C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000683837.1:n.1399C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000358385.12:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351155.7:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000351155.7:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749060",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358385.12:c.1065C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015915.5:c.1065C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351155.7:p.Asn355Lys"
          },
          "RefSeq": {
            "hgvs": "NP_056999.2:p.Asn355Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3023,
          "referenceAllele": "C",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000674288.1:c.*2357C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501522.1:n.*2357C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000358385.10:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351155.6:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000351155.6:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000441560.6:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413675.2:p.Asn355Lys",
        "hgvsWellDefined": "ENSP00000413675.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "ENST00000555266.1:c.208C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450897.1:n.208C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658280",
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "NM_001127713.1:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121185.1:p.Asn355Lys",
        "hgvsWellDefined": "NP_001121185.1:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099405",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "NM_015915.4:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056999.2:p.Asn355Lys",
        "hgvsWellDefined": "NP_056999.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891859901",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "NM_181598.3:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_853629.2:p.Asn355Lys",
        "hgvsWellDefined": "NP_853629.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099405",
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "NM_015915.5:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056999.2:p.Asn355Lys",
        "hgvsWellDefined": "NP_056999.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697626",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358385.12:c.1065C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015915.5:c.1065C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351155.7:p.Asn355Lys"
          },
          "RefSeq": {
            "hgvs": "NP_056999.2:p.Asn355Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA891859901",
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011231",
      "geneNCBI_id": 51062,
      "geneSymbol": "ATL1",
      "hgvs": [
        "NM_181598.4:c.1065C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_853629.2:p.Asn355Lys",
        "hgvsWellDefined": "NP_853629.2:p.Asn355Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729723"
    }
  ],
  "type": "nucleotide"
}